Use of Eye Tracking to Study Social Perception Abnormalities in Children With Angelman Syndrome

Summary

Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately 1 in 15,000 children - approximately 500,000 people worldwide. It is a major neurodevelopmental disorder characterized by severe developmental delay with significant intellectual disability, lack of oral language, motor, balance, and sensory impairments.

While basic research and clinical trials are progressing, the scientific community is still searching for key biomarkers to assess significant improvements in individuals participating in clinical trials.

Eye tracking has been widely used in the diagnosis of social perception abnormalities in children with autism spectrum disorder, as has already been the case for other rare neurodevelopmental diseases. However, few studies have highlighted the usefulness of eye tracking as a diagnostic tool for social behavioral disorders in individuals with Angelman syndrome. Given the prevalence of autistic-like symptoms in patients with AS, if eye-tracking can identify abnormalities in social perception in children with Angelman syndrome, these measurements could become a biomarker for therapeutic studies in these patients.

Conditions

• Angelman Syndrome

Interventions

OTHER

Eye tracking

The eye-tracking session will take place in the Pediatric Radiology department of Necker Hospital. The child will be seated in front of a computer screen. Films and images with social and/or non-social content will be shown to the children. The session will be unique, will last approximately 15 minutes and will not involve any constraints for the child. Eye tracking allows to measure where and how a person looks. An infrared light is emitted towards the subject's eye. It is reflected there and a camera records the reflections generated, allowing a real-time calculation of the position of the gaze. The technique is harmless and non-invasive.

OTHER

Data collection from patients' medical files

Data collection from patients' medical files: * Brain imaging data if this examination was carried out as part of the patient's care, * Angelman syndrome genotypes.

OTHER

questionnaires

Completion of two questionnaires by parents, the DIVA-5 ID to assess the level of attention difficulties and the M-CHAT questionnaire to measure the level of social difficulties in children. The purpose of these two scales is to better interpret the eye-tracking results.

Sponsors & Collaborators

• URC-CIC Paris Descartes Necker Cochin

  collaborator OTHER

• Assistance Publique - Hôpitaux de Paris

  lead OTHER

Principal Investigators

• Nathalie MD, PhD Boddaert · Assistance Publique - Hôpitaux de Paris

• Monica MD Zilbovicius · Assistance Publique - Hôpitaux de Paris

Eligibility

Min Age

3 Years

Max Age

17 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2025-02-25

Primary Completion

2027-02-28

Completion

2027-02-28

Countries

• France

Study Locations